title: Does enthesopathy relate to M694V gene mutation in patients with Familial Mediterranean fever?
abstract: Familial Mediterranean fever (FMF) is a systemic hereditary autoinflammatory disorder. The present study aimed to investigate the relationship of enthesitis to FMF and to search the potential association between enthesitis and MEFV gene missense variations in patients with FMF. The study consisted of 72 FMF patients (mean age 29.12 ± 11.47 years, 32 females), 29 patients with ankylosing spondylitis (AS) (mean age 34.14 ± 11.73 years, 16 females), and 34 healthy volunteers (mean age 23.06 ± 6.41 years, 8 females). FMF patients were classified according to the kind of MEFV gene mutation. Doppler ultrasound was used to determine enthesitis based on the Outcome Measures in Rheumatoid Arthritis Clinical Trials (OMERACT) scoring system. OMERACT score was significantly different between FMF patients and control group (p < 0.001 in all patients, p = 0.009 in men, and p = 0.002 in women). However, it was not significantly different between FMF and AS patients in both sexes. OMERACT score did not differ between FMF patients with and without M694V gene mutation. The best cutoff point of OMERACT score to predict enthesitis was found as ≥0.5 with sensitivity of 29 %, specificity of 100 %, positive predictive value of 100 %, and negative predictive value of 40 %.
authors.affiliation: Department of Radiology, School of Medicine, Suleyman Demirel University, Hızır bey mahallesi 1558. Sokak, Tepe Sitesi B Blok Daire No:7, Isparta, 32100, Turkey, droyilmazrad@hotmail.com.
authors.forename: Ömer
authors.initials: Ö
authors.lastname: Yilmaz
authors.forename: Bünyamin
authors.initials: B
authors.lastname: Kısacık
authors.forename: Fuat
authors.initials: F
authors.lastname: Ozkan
authors.forename: Gülçimen
authors.initials: G
authors.lastname: Güven
authors.forename: Elif Nisa
authors.initials: EN
authors.lastname: Unlü
authors.forename: Yavuz
authors.initials: Y
authors.lastname: Pehlivan
authors.forename: Ahmet Mesut
authors.initials: AM
authors.lastname: Onat
mesh_terms: D000125:Achilles Tendon / Q000000981:diagnostic imaging; D000293:Adolescent; D000328:Adult; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000071198:Pyrin; D012216:Rheumatic Diseases / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D013167:Spondylitis, Ankylosing / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D014463:Ultrasonography
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin